Human Phenotype Ontology 
Grandparent Node:
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Abnormal glucose homeostasis (HP:0011014)help
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Diabetes mellitus (HP:0000819)help
..Starting node
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Type I diabetes mellitus (HP:0100651)help
Term ID: 100651
Name: Type I diabetes mellitus
Synonym: Diabetes mellitus Type I; Insulin-dependent diabetes mellitus; Juvenile diabetes mellitus; Type 1 diabetes; Type I diabetes
Definition: A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
Comments:
Reference: HP:0100651
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDiabetic ketoacidosis (HP:0001953) help
..expandInsulin-resistant diabetes mellitus (HP:0000831) help
..expandMaternal diabetes (HP:0009800) help
..expandMaturity-onset diabetes of the young (HP:0004904) help
..expandType II diabetes mellitus (HP:0005978) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100651HP:0100651Type I diabetes mellitus0ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040284 - Very rare245
HP:0100651HP:0100651Type I diabetes mellitus0ABCC8 CL E G H683359OMIM:618857DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3245
HP:0100651HP:0100651Type I diabetes mellitus0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0100651HP:0100651Type I diabetes mellitus0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0100651HP:0100651Type I diabetes mellitus0CAT CL E G H8471516ORPHA:926AcatalasemiaHP:0040284 - Very rare5
HP:0100651HP:0100651Type I diabetes mellitus0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0100651HP:0100651Type I diabetes mellitus0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0100651HP:0100651Type I diabetes mellitus0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis.2
HP:0100651HP:0100651Type I diabetes mellitus0CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040284 - Very rare5
HP:0100651HP:0100651Type I diabetes mellitus0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus.3
HP:0100651HP:0100651Type I diabetes mellitus0DNASE2 CL E G H17772960OMIM:619858
HP:0100651HP:0100651Type I diabetes mellitus0DUT CL E G H18543078OMIM:620044
HP:0100651HP:0100651Type I diabetes mellitus0EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional115
HP:0100651HP:0100651Type I diabetes mellitus0EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional11
HP:0100651HP:0100651Type I diabetes mellitus0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0100651HP:0100651Type I diabetes mellitus0FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040284 - Very rare11
HP:0100651HP:0100651Type I diabetes mellitus0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040282 - Frequent32
HP:0100651HP:0100651Type I diabetes mellitus0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0100651HP:0100651Type I diabetes mellitus0GCK CL E G H26454195OMIM:606176DIABETES MELLITUS, PERMANENT NEONATAL; PNDM237
HP:0100651HP:0100651Type I diabetes mellitus0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0100651HP:0100651Type I diabetes mellitus0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0100651HP:0100651Type I diabetes mellitus0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0100651HP:0100651Type I diabetes mellitus0HNF1A CL E G H692711621OMIM:612520DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20161
HP:0100651HP:0100651Type I diabetes mellitus0IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0100651HP:0100651Type I diabetes mellitus0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0100651HP:0100651Type I diabetes mellitus0INS CL E G H36306081OMIM:125852Diabetes mellitus, insulin-dependent, 2.62
HP:0100651HP:0100651Type I diabetes mellitus0INS CL E G H36306081OMIM:618858DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM462
HP:0100651HP:0100651Type I diabetes mellitus0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0100651HP:0100651Type I diabetes mellitus0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040283 - Occasional3
HP:0100651HP:0100651Type I diabetes mellitus0KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040284 - Very rare127
HP:0100651HP:0100651Type I diabetes mellitus0KCNJ11 CL E G H37676257OMIM:618856DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2127
HP:0100651HP:0100651Type I diabetes mellitus0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040282 - Frequent11
HP:0100651HP:0100651Type I diabetes mellitus0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0100651HP:0100651Type I diabetes mellitus0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0100651HP:0100651Type I diabetes mellitus0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional2
HP:0100651HP:0100651Type I diabetes mellitus0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional64
HP:0100651HP:0100651Type I diabetes mellitus0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0100651HP:0100651Type I diabetes mellitus0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0NEUROG3 CL E G H5067413806ORPHA:83620Enteric anendocrinosisHP:0040282 - Frequent5
HP:0100651HP:0100651Type I diabetes mellitus0PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040284 - Very rare11
HP:0100651HP:0100651Type I diabetes mellitus0PSTPIP1 CL E G H90519580ORPHA:69126Pyogenic arthritis-pyoderma gangrenosum-acne syndromeHP:0040283 - Occasional96
HP:0100651HP:0100651Type I diabetes mellitus0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0100651HP:0100651Type I diabetes mellitus0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0100651HP:0100651Type I diabetes mellitus0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0100651HP:0100651Type I diabetes mellitus0SPI1 CL E G H668811241OMIM:619707AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0100651HP:0100651Type I diabetes mellitus0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent89
HP:0100651HP:0100651Type I diabetes mellitus0STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0100651HP:0100651Type I diabetes mellitus0STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040284 - Very rare2
HP:0100651HP:0100651Type I diabetes mellitus0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040284 - Very rare14
HP:0100651HP:0100651Type I diabetes mellitus0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241
HP:0100651HP:0100651Type I diabetes mellitus0TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040283 - Occasional4
HP:0100651HP:0100651Type I diabetes mellitus0TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0100651HP:0100651Type I diabetes mellitus0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent
HP:0100651HP:0100651Type I diabetes mellitus0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040281 - Very frequent
HP:0100651HP:0100651Type I diabetes mellitus0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0100651HP:0100651Type I diabetes mellitus0TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040284 - Very rare26


Genes (64) :ABCC8 ADA2 AIRE CAT CAV1 CLCNKB CNOT1 CORIN COX1 COX2 COX3 DNAJC3 DNASE2 DUT EDA EDA2R EIF2AK3 FLT1 FOXP3 GCK GPR35 HLA-DQA1 HLA-DQB1 HNF1A IL18BP IL2RA INS ITCH KCNJ11 KCTD1 LRBA MIA3 MMP14 MMP2 MST1 ND1 ND4 ND5 ND6 NEUROG3 PI4KA PSTPIP1 SEMA4D SLC12A3 SLC29A3 SLC37A4 SPI1 STAT1 STAT3 STOX1 STUB1 TCF4 TKT TLR8 TOM1 TRNE TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TTC7A

Diseases (45) :ORPHA:276575 OMIM:618857 OMIM:615688 OMIM:240300 ORPHA:926 OMIM:606721 ORPHA:358 OMIM:618500 ORPHA:275555 ORPHA:550 OMIM:616192 OMIM:619858 OMIM:620044 ORPHA:181 OMIM:226980 ORPHA:37042 OMIM:304790 OMIM:606176 ORPHA:171 OMIM:212750 OMIM:612520 OMIM:618549 OMIM:606367 OMIM:125852 OMIM:618858 OMIM:613385 ORPHA:228426 ORPHA:276580 OMIM:618856 ORPHA:2036 OMIM:614700 OMIM:619269 ORPHA:371428 ORPHA:83620 ORPHA:436252 ORPHA:69126 OMIM:602782 OMIM:619525 OMIM:619707 ORPHA:391487 OMIM:615952 ORPHA:412057 ORPHA:488618 OMIM:301078 ORPHA:2596
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.