Autoimmune Disease, Multisystem, With Facial Dysmorphism; Admfd

Clinical Features

Top most frequent phenotypes and symptoms related to Autoimmune Disease, Multisystem, With Facial Dysmorphism; Admfd

  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Failure to thrive
  • Ptosis
  • Abnormal facial shape
  • Low-set ears
  • Hepatomegaly
  • Macrocephaly
  • Frontal bossing
And another 24 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Autoimmune Disease, Multisystem, With Facial Dysmorphism; Admfd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ALPS/autoimmunity panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CASP8, AIRE, KRAS, NRAS, FOXP3, FAS, FASLG, CASP10, LRBA, FADD, IL2RA, ITCH
Specificity
9 %
Genes
100 %
Immune dysregulation Panel.

By CeGaT GmbH in Germany.

CASP8, AP3B1, AIRE, PRF1, TREX1, FOXP3, LYST, SH2D1A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, PRKCD, CARD11, IL2RA, ITCH , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
ITCH.

By Fulgent Genetics Fulgent Genetics in United States.

ITCH
Specificity
100 %
Genes
100 %
CEN4GEN Breast cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, PTEN, TP53, RB1, RET, SEPT9, FGFR2, ATM, CDH1, CDKN2A, FGFR1, GATA3, NEK2, ERBB3, EP300, BAP1, PIK3CA, EGFR, AKT1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %

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