MCID: ATM081
MIFTS: 24

Autoimmune Disease, Multisystem, with Facial Dysmorphism

Categories: Genetic diseases, Neuronal diseases, Gastrointestinal diseases, Respiratory diseases, Bone diseases, Fetal diseases, Blood diseases, Rare diseases

Aliases & Classifications for Autoimmune Disease, Multisystem, with Facial Dysmorphism

MalaCards integrated aliases for Autoimmune Disease, Multisystem, with Facial Dysmorphism:

Name: Autoimmune Disease, Multisystem, with Facial Dysmorphism 57 75 40 73
Admfd 57 75
Syndromic Multisystem Autoimmune Disease Due to Itch Deficiency 59
Syndromic Multisystem Autoimmune Disease 75

Characteristics:

Orphanet epidemiological data:

59
syndromic multisystem autoimmune disease due to itch deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
autoimmune disease, multisystem, with facial dysmorphism:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Autoimmune Disease, Multisystem, with Facial Dysmorphism

UniProtKB/Swiss-Prot : 75 Autoimmune disease, multisystem, with facial dysmorphism: A disorder characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features and autoimmune inflammatory cell infiltration of the lungs, liver and gut.

MalaCards based summary : Autoimmune Disease, Multisystem, with Facial Dysmorphism, also known as admfd, is related to itch e3 ubiquitin ligase deficiency and autoimmune disease. An important gene associated with Autoimmune Disease, Multisystem, with Facial Dysmorphism is ITCH (Itchy E3 Ubiquitin Protein Ligase). Affiliated tissues include lung, liver and bone, and related phenotypes are low-set ears and frontal bossing

Description from OMIM: 613385

Related Diseases for Autoimmune Disease, Multisystem, with Facial Dysmorphism

Diseases related to Autoimmune Disease, Multisystem, with Facial Dysmorphism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 itch e3 ubiquitin ligase deficiency 11.8
2 autoimmune disease 9.8
3 autoimmune disease 1 9.8
4 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8

Symptoms & Phenotypes for Autoimmune Disease, Multisystem, with Facial Dysmorphism

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Hands:
clinodactyly
camptodactyly

Abdomen Liver:
hepatomegaly

Neurologic Central Nervous System:
psychomotor delay
global hypotonia

Growth Height:
below 3rd percentile

Respiratory Lung:
pneumonitis, cellular, nonspecific interstitial
severe chronic lung disease
respiratory failure, fatal (in some patients)

Endocrine Features:
hypothyroidism, autoantibody-positive (in some patients)
diabetes mellitus, type 1 (rare)

Head And Neck Head:
frontal bossing
dolichocephaly
prominent occiput
macrocephaly, relative

AbdomenSpleen:
splenomegaly

Head And Neck Eyes:
proptosis

Head And Neck Face:
small chin
flattened midface

Growth Weight:
below 3rd percentile

Abdomen Gastrointestinal:
enteropathy, autoimmune (in some patients)
chronic diarrhea (in some patients)


Clinical features from OMIM:

613385

Human phenotypes related to Autoimmune Disease, Multisystem, with Facial Dysmorphism:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 frontal bossing 32 HP:0002007
3 clinodactyly 32 HP:0030084
4 global developmental delay 32 HP:0001263
5 splenomegaly 32 HP:0001744
6 hepatomegaly 32 HP:0002240
7 abnormal facial shape 32 HP:0001999
8 dolichocephaly 32 HP:0000268
9 prominent occiput 32 HP:0000269
10 autoimmunity 32 HP:0002960
11 chronic diarrhea 32 occasional (7.5%) HP:0002028
12 proptosis 32 HP:0000520
13 relative macrocephaly 32 HP:0004482
14 posteriorly rotated ears 32 HP:0000358
15 camptodactyly 32 HP:0012385
16 short chin 32 HP:0000331

Drugs & Therapeutics for Autoimmune Disease, Multisystem, with Facial Dysmorphism

Search Clinical Trials , NIH Clinical Center for Autoimmune Disease, Multisystem, with Facial Dysmorphism

Genetic Tests for Autoimmune Disease, Multisystem, with Facial Dysmorphism

Anatomical Context for Autoimmune Disease, Multisystem, with Facial Dysmorphism

MalaCards organs/tissues related to Autoimmune Disease, Multisystem, with Facial Dysmorphism:

41
Lung, Liver, Bone

Publications for Autoimmune Disease, Multisystem, with Facial Dysmorphism

Articles related to Autoimmune Disease, Multisystem, with Facial Dysmorphism:

# Title Authors Year
1
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. ( 20170897 )
2010

Variations for Autoimmune Disease, Multisystem, with Facial Dysmorphism

ClinVar genetic disease variations for Autoimmune Disease, Multisystem, with Facial Dysmorphism:

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITCH NM_031483.6(ITCH): c.394dupA (p.Ile132Asnfs) duplication Pathogenic rs587776592 GRCh37 Chromosome 20, 33001604: 33001604
2 ITCH NM_031483.6(ITCH): c.394dupA (p.Ile132Asnfs) duplication Pathogenic rs587776592 GRCh38 Chromosome 20, 34413798: 34413798
3 ITCH NM_031483.6(ITCH): c.966-7G> T single nucleotide variant Likely benign rs773671382 GRCh37 Chromosome 20, 33033085: 33033085
4 ITCH NM_031483.6(ITCH): c.966-7G> T single nucleotide variant Likely benign rs773671382 GRCh38 Chromosome 20, 34445280: 34445280
5 ITCH NM_031483.6(ITCH): c.1272A> G (p.Gln424=) single nucleotide variant Likely benign rs749700496 GRCh37 Chromosome 20, 33045256: 33045256
6 ITCH NM_031483.6(ITCH): c.1272A> G (p.Gln424=) single nucleotide variant Likely benign rs749700496 GRCh38 Chromosome 20, 34457451: 34457451
7 ITCH NM_031483.6(ITCH): c.1146A> G (p.Gln382=) single nucleotide variant Benign rs141828786 GRCh38 Chromosome 20, 34449416: 34449416
8 ITCH NM_031483.6(ITCH): c.1146A> G (p.Gln382=) single nucleotide variant Benign rs141828786 GRCh37 Chromosome 20, 33037221: 33037221
9 ITCH NM_031483.6(ITCH): c.966-9C> T single nucleotide variant Benign rs879012592 GRCh38 Chromosome 20, 34445278: 34445278
10 ITCH NM_031483.6(ITCH): c.966-9C> T single nucleotide variant Benign rs879012592 GRCh37 Chromosome 20, 33033083: 33033083
11 ITCH NM_031483.6(ITCH): c.246T> C (p.Arg82=) single nucleotide variant Benign rs3761146 GRCh37 Chromosome 20, 33000354: 33000354
12 ITCH NM_031483.6(ITCH): c.246T> C (p.Arg82=) single nucleotide variant Benign rs3761146 GRCh38 Chromosome 20, 34412548: 34412548
13 ITCH NM_031483.6(ITCH): c.763_768dup (p.Thr256_Ser257insAsnThr) duplication Uncertain significance GRCh37 Chromosome 20, 33028043: 33028048
14 ITCH NM_031483.6(ITCH): c.763_768dup (p.Thr256_Ser257insAsnThr) duplication Uncertain significance GRCh38 Chromosome 20, 34440238: 34440243
15 ITCH NM_031483.6(ITCH): c.213-8A> T single nucleotide variant Likely benign GRCh38 Chromosome 20, 34412507: 34412507
16 ITCH NM_031483.6(ITCH): c.213-8A> T single nucleotide variant Likely benign GRCh37 Chromosome 20, 33000313: 33000313
17 ITCH NM_031483.6(ITCH): c.694T> G (p.Ser232Ala) single nucleotide variant Uncertain significance rs773997755 GRCh38 Chromosome 20, 34440169: 34440169
18 ITCH NM_031483.6(ITCH): c.694T> G (p.Ser232Ala) single nucleotide variant Uncertain significance rs773997755 GRCh37 Chromosome 20, 33027974: 33027974
19 ITCH NM_031483.6(ITCH): c.1821T> A (p.Ala607=) single nucleotide variant Likely benign rs780622395 GRCh38 Chromosome 20, 34480601: 34480601
20 ITCH NM_031483.6(ITCH): c.1821T> A (p.Ala607=) single nucleotide variant Likely benign rs780622395 GRCh37 Chromosome 20, 33068406: 33068406
21 ITCH NM_031483.6(ITCH): c.2154A> G (p.Glu718=) single nucleotide variant Benign rs143022837 GRCh38 Chromosome 20, 34489326: 34489326
22 ITCH NM_031483.6(ITCH): c.2154A> G (p.Glu718=) single nucleotide variant Benign rs143022837 GRCh37 Chromosome 20, 33077131: 33077131
23 ITCH NM_031483.6(ITCH): c.467G> A (p.Cys156Tyr) single nucleotide variant Likely benign rs149625278 GRCh37 Chromosome 20, 33001677: 33001677
24 ITCH NM_031483.6(ITCH): c.467G> A (p.Cys156Tyr) single nucleotide variant Likely benign rs149625278 GRCh38 Chromosome 20, 34413871: 34413871
25 ITCH NM_031483.6(ITCH): c.763_768delAATACA (p.Asn255_Thr256del) deletion Uncertain significance GRCh37 Chromosome 20, 33028043: 33028048
26 ITCH NM_031483.6(ITCH): c.763_768delAATACA (p.Asn255_Thr256del) deletion Uncertain significance GRCh38 Chromosome 20, 34440238: 34440243

Expression for Autoimmune Disease, Multisystem, with Facial Dysmorphism

Search GEO for disease gene expression data for Autoimmune Disease, Multisystem, with Facial Dysmorphism.

Pathways for Autoimmune Disease, Multisystem, with Facial Dysmorphism

GO Terms for Autoimmune Disease, Multisystem, with Facial Dysmorphism

Sources for Autoimmune Disease, Multisystem, with Facial Dysmorphism

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74 UMLS via Orphanet
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