MCID: INT318
MIFTS: 8

Intrinsic Factor and R Binder, Combined Congenital Deficiency of

Aliases & Classifications for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

MalaCards integrated aliases for Intrinsic Factor and R Binder, Combined Congenital Deficiency of:

Name: Intrinsic Factor and R Binder, Combined Congenital Deficiency of 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
intrinsic factor and r binder, combined congenital deficiency of:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 243320
MedGen 41 C1855721

Summaries for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

MalaCards based summary : Intrinsic Factor and R Binder, Combined Congenital Deficiency of Affiliated tissues include spinal cord, and related phenotypes are abnormality of the nervous system and abnormality of metabolism/homeostasis

More information from OMIM: 243320

Related Diseases for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

Symptoms & Phenotypes for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

Human phenotypes related to Intrinsic Factor and R Binder, Combined Congenital Deficiency of:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system 31 HP:0000707
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 growth delay 31 HP:0001510
4 megaloblastic anemia 31 HP:0001889
5 absence of intrinsic factor 31 HP:0005219

Symptoms via clinical synopsis from OMIM:

56
Heme:
megaloblastic anemia

Neuro:
subacute combined degeneration of the spinal cord

Growth:
growth retardation

Lab:
intrinsic factor absent from gastric juice
acid secretion and gastric mucosa normal
r binders absent from gastric juice, serum, saliva, and polymorphonuclear leukocytes

Clinical features from OMIM:

243320

Drugs & Therapeutics for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

Search Clinical Trials , NIH Clinical Center for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

Genetic Tests for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

Anatomical Context for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

MalaCards organs/tissues related to Intrinsic Factor and R Binder, Combined Congenital Deficiency of:

40
Spinal Cord

Publications for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

Articles related to Intrinsic Factor and R Binder, Combined Congenital Deficiency of:

# Title Authors PMID Year
1
Combined congenital deficiencies of intrinsic factor and R binder. 56
3166387 1988

Variations for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

Expression for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

Search GEO for disease gene expression data for Intrinsic Factor and R Binder, Combined Congenital Deficiency of.

Pathways for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

GO Terms for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

Sources for Intrinsic Factor and R Binder, Combined Congenital Deficiency of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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