ADMFD
MCID: ATM081
MIFTS: 32

Autoimmune Disease, Multisystem, with Facial Dysmorphism (ADMFD)

Categories: Blood diseases, Bone diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory 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 72 6 39 70
Admfd 57 72
Syndromic Multisystem Autoimmune Disease Due to Itch Deficiency 58
Syndromic Multisystem Autoimmune Disease 72

Characteristics:

Orphanet epidemiological data:

58
syndromic multisystem autoimmune disease due to itch deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
autoimmune disease, multisystem, with facial dysmorphism:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare gastroenterological diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Autoimmune Disease, Multisystem, with Facial Dysmorphism

UniProtKB/Swiss-Prot : 72 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, smooth muscle and liver, and related phenotypes are global developmental delay and abnormal facial shape

More information 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:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 itch e3 ubiquitin ligase deficiency 11.7
2 autoimmune disease 10.2
3 lymphoproliferative syndrome 10.0
4 portal hypertension 10.0
5 neutropenia 10.0
6 pancytopenia 10.0
7 cholestasis 10.0
8 autoimmune hepatitis 10.0
9 liver disease 10.0
10 liver cirrhosis 10.0
11 hypersplenism 10.0
12 thyroiditis 10.0
13 exophthalmos 10.0
14 hypereosinophilic syndrome 10.0
15 hypotonia 10.0
16 systemic autoimmune disease 10.0
17 acute liver failure 10.0

Graphical network of the top 20 diseases related to Autoimmune Disease, Multisystem, with Facial Dysmorphism:



Diseases related to Autoimmune Disease, Multisystem, with Facial Dysmorphism

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

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

58 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 very rare (1%) Very frequent (99-80%) HP:0001263
2 abnormal facial shape 58 31 very rare (1%) Very frequent (99-80%) HP:0001999
3 failure to thrive in infancy 58 31 very rare (1%) Very frequent (99-80%) HP:0001531
4 relative macrocephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0004482
5 hepatosplenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001433
6 chronic lung disease 58 31 very rare (1%) Very frequent (99-80%) HP:0006528
7 hypothyroidism 58 31 very rare (1%) Frequent (79-30%) HP:0000821
8 hepatitis 58 31 very rare (1%) Frequent (79-30%) HP:0012115
9 thyroiditis 58 31 frequent (33%) Frequent (79-30%) HP:0100646
10 hypersplenism 58 31 very rare (1%) Frequent (79-30%) HP:0001971
11 proptosis 58 31 very rare (1%) Frequent (79-30%) HP:0000520
12 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
13 gastrostomy tube feeding in infancy 58 31 very rare (1%) Frequent (79-30%) HP:0011471
14 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
15 anti-thyroid peroxidase antibody positivity 58 31 frequent (33%) Frequent (79-30%) HP:0025379
16 frontal bossing 58 31 very rare (1%) Occasional (29-5%) HP:0002007
17 ptosis 58 31 very rare (1%) Occasional (29-5%) HP:0000508
18 type i diabetes mellitus 58 31 very rare (1%) Occasional (29-5%) HP:0100651
19 portal hypertension 58 31 very rare (1%) Occasional (29-5%) HP:0001409
20 prominent occiput 58 31 occasional (7.5%) Occasional (29-5%) HP:0000269
21 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
22 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
23 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
24 choanal atresia 58 31 very rare (1%) Occasional (29-5%) HP:0000453
25 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
26 pancytopenia 58 31 very rare (1%) Occasional (29-5%) HP:0001876
27 acute hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0006554
28 abnormal intestine morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002242
29 camptodactyly 58 31 very rare (1%) Occasional (29-5%) HP:0012385
30 clinodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030084
31 short chin 58 31 very rare (1%) Occasional (29-5%) HP:0000331
32 neutropenia in presence of anti-neutropil antibodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0001904
33 smooth muscle antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003262
34 antineutrophil antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003453
35 insulin receptor antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0031104
36 cholangitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0030151
37 anti-glutamic acid decarboxylase antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0025329
38 chronic diarrhea 31 occasional (7.5%) HP:0002028
39 hepatomegaly 31 very rare (1%) HP:0002240
40 delayed skeletal maturation 31 very rare (1%) HP:0002750
41 hypertelorism 31 very rare (1%) HP:0000316
42 recurrent respiratory infections 31 very rare (1%) HP:0002205
43 short stature 31 very rare (1%) HP:0004322
44 gastroesophageal reflux 31 very rare (1%) HP:0002020
45 feeding difficulties in infancy 31 very rare (1%) HP:0008872
46 low-set ears 31 very rare (1%) HP:0000369
47 hashimoto thyroiditis 31 very rare (1%) HP:0000872
48 pectus excavatum 31 very rare (1%) HP:0000767
49 slender long bone 31 very rare (1%) HP:0003100
50 motor delay 31 very rare (1%) HP:0001270

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
frontal bossing
prominent occiput
dolichocephaly
macrocephaly, relative

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
proptosis

Head And Neck Face:
small chin
flattened midface

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)

Abdomen Spleen:
splenomegaly

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

Skeletal Hands:
camptodactyly
clinodactyly

Neurologic Central Nervous System:
psychomotor delay
global hypotonia

Growth Weight:
below 3rd percentile

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

Clinical features from OMIM®:

613385 (Updated 20-May-2021)

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:

40
Lung, Smooth Muscle, Liver, Thyroid, Bone

Publications for Autoimmune Disease, Multisystem, with Facial Dysmorphism

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

# Title Authors PMID Year
1
Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report. 61 57 6
31091003 2019
2
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. 57 6
20170897 2010
3
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015

Variations for Autoimmune Disease, Multisystem, with Facial Dysmorphism

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

6 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITCH NM_031483.7(ITCH):c.603del (p.Leu202fs) Deletion Pathogenic 977646 GRCh37: 20:33026360-33026360
GRCh38: 20:34438555-34438555
2 ITCH NM_031483.7(ITCH):c.2005_2008del (p.Glu669fs) Deletion Pathogenic 977647 GRCh37: 20:33068920-33068923
GRCh38: 20:34481115-34481118
3 ITCH NM_031483.7(ITCH):c.394dup (p.Ile132fs) Duplication Pathogenic 4391 rs587776592 GRCh37: 20:33001602-33001603
GRCh38: 20:34413796-34413797
4 ITCH NM_031483.7(ITCH):c.1954G>T (p.Glu652Ter) SNV Pathogenic 929409 GRCh37: 20:33068872-33068872
GRCh38: 20:34481067-34481067
5 ITCH NC_000020.11:g.(?_34457370)_(34457494_?)del Deletion Pathogenic 832691 GRCh37: 20:33045175-33045299
GRCh38:
6 ITCH NM_031483.7(ITCH):c.2256G>A (p.Trp752Ter) SNV Pathogenic 1028416 GRCh37: 20:33077668-33077668
GRCh38: 20:34489863-34489863
7 ITCH NM_031483.7(ITCH):c.1952+3_1952+6del Microsatellite Likely pathogenic 930463 GRCh37: 20:33068535-33068538
GRCh38: 20:34480730-34480733
8 ITCH NM_031483.7(ITCH):c.25G>C (p.Gly9Arg) SNV Uncertain significance 930887 GRCh37: 20:32981642-32981642
GRCh38: 20:34393836-34393836
9 ITCH NM_031483.7(ITCH):c.720T>G (p.Asp240Glu) SNV Uncertain significance 966353 GRCh37: 20:33028000-33028000
GRCh38: 20:34440195-34440195
10 ITCH NM_031483.7(ITCH):c.409A>G (p.Ile137Val) SNV Uncertain significance 942782 GRCh37: 20:33001619-33001619
GRCh38: 20:34413813-34413813
11 ITCH NM_031483.7(ITCH):c.731C>T (p.Thr244Ile) SNV Uncertain significance 971294 GRCh37: 20:33028011-33028011
GRCh38: 20:34440206-34440206
12 ITCH NM_031483.7(ITCH):c.694T>G (p.Ser232Ala) SNV Uncertain significance 538752 rs773997755 GRCh37: 20:33027974-33027974
GRCh38: 20:34440169-34440169
13 ITCH NM_031483.7(ITCH):c.751_756AATACA[4] (p.251_252NT[4]) Microsatellite Uncertain significance 538753 rs752161809 GRCh37: 20:33028027-33028028
GRCh38: 20:34440222-34440223
14 ITCH NM_031483.7(ITCH):c.751_756AATACA[2] (p.251_252NT[2]) Microsatellite Uncertain significance 538754 rs752161809 GRCh37: 20:33028028-33028033
GRCh38: 20:34440223-34440228
15 ITCH NM_031483.7(ITCH):c.1915A>G (p.Ile639Val) SNV Uncertain significance 582399 rs139633287 GRCh37: 20:33068500-33068500
GRCh38: 20:34480695-34480695
16 ITCH NM_031483.7(ITCH):c.610A>G (p.Asn204Asp) SNV Uncertain significance 640637 rs1601902200 GRCh37: 20:33026367-33026367
GRCh38: 20:34438562-34438562
17 ITCH NM_031483.7(ITCH):c.908A>G (p.Tyr303Cys) SNV Uncertain significance 655936 rs771764384 GRCh37: 20:33030051-33030051
GRCh38: 20:34442246-34442246
18 ITCH NM_031483.7(ITCH):c.1405C>T (p.Arg469Cys) SNV Uncertain significance 661307 rs201066823 GRCh37: 20:33050007-33050007
GRCh38: 20:34462202-34462202
19 ITCH NM_031483.7(ITCH):c.350T>C (p.Val117Ala) SNV Uncertain significance 663270 rs1601841346 GRCh37: 20:33001560-33001560
GRCh38: 20:34413754-34413754
20 ITCH NM_031483.7(ITCH):c.1953-3C>A SNV Uncertain significance 665933 rs946679538 GRCh37: 20:33068868-33068868
GRCh38: 20:34481063-34481063
21 ITCH NM_031483.7(ITCH):c.1169G>A (p.Ser390Asn) SNV Uncertain significance 834164 GRCh37: 20:33037244-33037244
GRCh38: 20:34449439-34449439
22 ITCH NM_031483.7(ITCH):c.670C>T (p.Arg224Cys) SNV Uncertain significance 851851 GRCh37: 20:33026427-33026427
GRCh38: 20:34438622-34438622
23 ITCH NM_031483.7(ITCH):c.1088G>A (p.Arg363His) SNV Uncertain significance 857690 GRCh37: 20:33033214-33033214
GRCh38: 20:34445409-34445409
24 ITCH NM_031483.7(ITCH):c.746C>T (p.Pro249Leu) SNV Uncertain significance 938389 GRCh37: 20:33028026-33028026
GRCh38: 20:34440221-34440221
25 ITCH NM_031483.7(ITCH):c.1569+3A>G SNV Uncertain significance 940970 GRCh37: 20:33059323-33059323
GRCh38: 20:34471518-34471518
26 ITCH NM_031483.7(ITCH):c.217G>A (p.Val73Ile) SNV Uncertain significance 947149 GRCh37: 20:33000325-33000325
GRCh38: 20:34412519-34412519
27 ITCH NM_031483.7(ITCH):c.2416+3A>G SNV Uncertain significance 956185 GRCh37: 20:33080405-33080405
GRCh38: 20:34492600-34492600
28 ITCH NM_031483.7(ITCH):c.1753C>G (p.Pro585Ala) SNV Uncertain significance 967037 GRCh37: 20:33067529-33067529
GRCh38: 20:34479724-34479724
29 ITCH NM_031483.7(ITCH):c.689A>G (p.Asn230Ser) SNV Uncertain significance 998837 GRCh37: 20:33027969-33027969
GRCh38: 20:34440164-34440164
30 ITCH NM_031483.7(ITCH):c.1756G>A (p.Ala586Thr) SNV Uncertain significance 999066 GRCh37: 20:33067532-33067532
GRCh38: 20:34479727-34479727
31 ITCH NM_031483.7(ITCH):c.1809T>A (p.Phe603Leu) SNV Uncertain significance 999882 GRCh37: 20:33067585-33067585
GRCh38: 20:34479780-34479780
32 ITCH NM_031483.7(ITCH):c.1229A>G (p.Asn410Ser) SNV Uncertain significance 1001349 GRCh37: 20:33045213-33045213
GRCh38: 20:34457408-34457408
33 ITCH NM_031483.7(ITCH):c.1659A>G (p.Arg553=) SNV Uncertain significance 1003791 GRCh37: 20:33067435-33067435
GRCh38: 20:34479630-34479630
34 ITCH NM_031483.7(ITCH):c.1570A>G (p.Ile524Val) SNV Uncertain significance 1005191 GRCh37: 20:33065577-33065577
GRCh38: 20:34477772-34477772
35 ITCH NM_031483.7(ITCH):c.33G>A (p.Met11Ile) SNV Uncertain significance 1008185 GRCh37: 20:32981650-32981650
GRCh38: 20:34393844-34393844
36 ITCH NM_031483.7(ITCH):c.1713T>A (p.Phe571Leu) SNV Uncertain significance 1008270 GRCh37: 20:33067489-33067489
GRCh38: 20:34479684-34479684
37 ITCH NM_031483.7(ITCH):c.2452G>A (p.Val818Ile) SNV Uncertain significance 573498 rs767087220 GRCh37: 20:33092171-33092171
GRCh38: 20:34504366-34504366
38 ITCH NM_031483.7(ITCH):c.2289G>T (p.Arg763Ser) SNV Uncertain significance 575318 rs1234261647 GRCh37: 20:33077701-33077701
GRCh38: 20:34489896-34489896
39 ITCH NM_031483.7(ITCH):c.83A>G (p.Lys28Arg) SNV Uncertain significance 581061 rs373940007 GRCh37: 20:32996469-32996469
GRCh38: 20:34408663-34408663
40 ITCH NM_031483.7(ITCH):c.329A>G (p.Asn110Ser) SNV Uncertain significance 661811 rs201149238 GRCh37: 20:33000437-33000437
GRCh38: 20:34412631-34412631
41 ITCH NM_031483.7(ITCH):c.428A>T (p.Gln143Leu) SNV Uncertain significance 841479 GRCh37: 20:33001638-33001638
GRCh38: 20:34413832-34413832
42 ITCH NM_031483.7(ITCH):c.1535C>T (p.Thr512Ile) SNV Uncertain significance 955095 GRCh37: 20:33059286-33059286
GRCh38: 20:34471481-34471481
43 ITCH NM_031483.7(ITCH):c.523G>A (p.Val175Met) SNV Uncertain significance 969737 GRCh37: 20:33026280-33026280
GRCh38: 20:34438475-34438475
44 ITCH NM_031483.7(ITCH):c.35G>A (p.Gly12Asp) SNV Uncertain significance 1017553 GRCh37: 20:32981652-32981652
GRCh38: 20:34393846-34393846
45 ITCH NM_031483.7(ITCH):c.1184C>A (p.Pro395His) SNV Uncertain significance 1025688 GRCh37: 20:33037259-33037259
GRCh38: 20:34449454-34449454
46 ITCH NM_031483.7(ITCH):c.842C>G (p.Pro281Arg) SNV Uncertain significance 1026528 GRCh37: 20:33028122-33028122
GRCh38: 20:34440317-34440317
47 ITCH NM_031483.7(ITCH):c.1122C>A (p.Asn374Lys) SNV Uncertain significance 842005 GRCh37: 20:33033248-33033248
GRCh38: 20:34445443-34445443
48 ITCH NM_031483.7(ITCH):c.1889C>G (p.Pro630Arg) SNV Uncertain significance 860245 GRCh37: 20:33068474-33068474
GRCh38: 20:34480669-34480669
49 ITCH NM_031483.7(ITCH):c.2120G>A (p.Arg707Gln) SNV Uncertain significance 940450 GRCh37: 20:33077097-33077097
GRCh38: 20:34489292-34489292
50 ITCH NM_031483.7(ITCH):c.205C>T (p.Leu69Phe) SNV Uncertain significance 956075 GRCh37: 20:32996591-32996591
GRCh38: 20:34408785-34408785

Expression for Autoimmune Disease, Multisystem, with Facial Dysmorphism

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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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