Rickets with anemia, syndromic

[cerivs]

Rickets which is characterized by elevated serum alkaline phosphatase with hepatomegaly (myeloblastosis, accumulation of erythroblasts and myeloblasts resembling chronic myeloid leukemia) hemolytic anemia and hepatosplenomegaly. Presents in infants and young children.
Implicated genes: VDR, CYP27b1, and others unknown Related synonyms von Jaksch-Luzet syndrome PMID:16886050 von Jaksch anemia Northern infant syndrome PMC1483275

Is_a rickets this is a grouping term that falls above OMIM# 277440 and # 264700 as well as other rickets presenting with anemia. hence the syndrome portion of the name. Is designed to capture the very early blood disease possibly caused by poor maternal condition that leads to von Jaksch-Luzet syndrome and other very early disease condition. I have had trouble pinning down the exact differences between the early onset rickets described in the medial literature.

[lschriml]

Thank you for pointing this out. I will take a look. Cheers, Lynn

On Tue, Sep 12, 2017 at 8:04 PM, cerivs notifications@github.com wrote:

Rickets which is characterized by elevated serum alkaline phosphatase with hepatomegaly (myeloblastosis, accumulation of erythroblasts and myeloblasts resembling chronic myeloid leukemia) hemolytic anemia and hepatosplenomegaly. Presents in infants and young children. Implicated genes: VDR, CYP27b1, and others unknown Related synonyms von Jaksch-Luzet syndrome PMID:16886050 von Jaksch anemia Northern infant syndrome PMC1483275

Is_a rickets this is a grouping term that falls above OMIM# 277440 and # 264700 as well as other rickets presenting with anemia. hence the syndrome portion of the name. Is designed to capture the very early blood disease possibly caused by poor maternal condition that leads to von Jaksch-Luzet syndrome and other very early disease condition. I have had trouble pinning down the exact differences between the early onset rickets described in the medial literature.

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[lschriml]

Hello Yvonne, looking at DO's classification of rickets, I see that we have brought together the OMIM terms for vitamin-D dependent rickets, as one single disease terms. Are you thinking that the early onset form is a different disease ? Can you point me to specific references, as I am not finding a splitting based on stage when I am reviewing this. Cheers, Lynn

[cerivs]

Hi Lynn, Rickets as defined by the DO only affects the bones. The issue isn't so much the stage but the systems affected. I have 2 papers describing rickets and defects in hematopoiesis. This form is syndromic caused either by certain gene mutations or by maternal vitamin D deficiency leading to acute neonatal vitamin D deficiency. Depending on the cause, rickets with anemia manifests prior to, or concurrent with, major bone mineralization. I need to be able to annotate diseases which model OMIM# 277440 and # 264700 and early extreme vitamin D deficiency. I didn't want to break out every OMIM ID into a separate term because that felt excessive. I just need a rickets term that encompasses making blood and making bone.

Papers PMID: 27705794, PMID:26365513 as well as the papers listed as synonym references

[lschriml]

Thank you for sending this detailed term request. I will work on it. Cheers, Lynn

Sent from my iPhone

On Oct 13, 2017, at 6:53 PM, cerivs notifications@github.com wrote:

Hi Lynn, Rickets as defined by the DO only affects the bones. The issue isn't so much the stage but the systems affected. I have 2 papers describing rickets and defects in hematopoiesis. This form is syndromic caused either by certain gene mutations or by maternal vitamin D deficiency leading to acute neonatal vitamin D deficiency. Depending on the cause, rickets with anemia manifests prior to, or concurrent with, major bone mineralization. I need to be able to annotate diseases which model OMIM# 277440 and # 264700 and early extreme vitamin D deficiency. I didn't want to break out every OMIM ID into a separate term because that felt excessive. I just need a rickets term that encompasses making blood and making bone.

Papers PMID: 27705794, PMID:26365513 as well as the papers listed as synonym references

— You are receiving this because you were assigned. Reply to this email directly, view it on GitHub, or mute the thread.

[lschriml]

Hello Yvonne, Thank you for the reminder about this ticket. Reading over the ticket and the papers, I see your point. These papers are pointing out the impact of vitamin D deficiency on Hematopoietic Stem Cell Production.

I think these papers are describing a type of hematopoietic system disease, that results from vitamin D deficiency.

--> reading through the papers, I am not finding a named disease, have you found a named disease ?

Looking in OMIM: for VITAMIN D-DEPENDENT RICKETS

264700. VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A

600081. VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B

277440. VITAMIN D-DEPENDENT RICKETS, TYPE 2A

% 600785. VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR; VDDR2B

--> In DO, we can create these four subtypes and realign their OMIM IDs.

Cheers, Lynn

[cerivs]

It looks like the papers are modeling 600081. VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B and Rickets, vitamin D-resistant, type IIA

[lschriml]

Thank you Yvonne !! I will get this updated.

Cheers, Lynn

[lschriml]

Hello Yvonne, the new terms have been added as a child of bone development disease, and with an inferred parent to hematopoietic system disease.

I have also reviewed and edited the associated xrefs.

Cheers, Lynn

Notes:
VITAMIN D-DEPENDENT RICKETS hematopoietic system disease, that results from vitamin D deficiency. SubClassOf: ('located in' some 'hematopoietic system')

       vitamin D-dependent rickets
                 https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets/

           OMIM:277440 
                     vitamin D-dependent rickets type 2A
                         Orphanet: Hypocalcemic vitamin D-resistant rickets
                         ORDO:93160

            OMIM:600785. 
                         vitamin D-dependent rickets type 2B 
                         VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D 
                         RECEPTOR; VDDR2B
                    ORDO:93160

          OMIM:264700
                     vitamin D-dependent rickets type 1A
                      VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
                     ORDO:289157

        OMIM: 600081. 
                     vitamin D-dependent rickets type 1B
                     VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
                     ORDO:289157

        - VDDR1A and VDDR1B have abnormally low levels of calcitriol 
        - VDDR2A and VDDR2B have abnormally high levels of calcitriol