KITLG gene related symptoms and diseases

All the information presented here about the KITLG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KITLG gene

Symptoms // Phenotype % Cases
Hearing impairment Rare - less than 30% cases
Hypopigmented skin patches Rare - less than 30% cases
Hyperpigmentation of the skin Rare - less than 30% cases
Progressive hyperpigmentation Rare - less than 30% cases
Hypopigmentation of the skin Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with KITLG gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Sensorineural hearing impairment
  • Macule
  • Neurofibromas
  • Freckling
  • Cafe-au-lait spot
  • Hyperkeratosis
  • Neoplasm
  • Growth delay

And 19 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KITLG gene

Here you will find a list of rare diseases related to the KITLG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


WAARDENBURG SYNDROME TYPE 2


Alternate names

WAARDENBURG SYNDROME TYPE 2 Is also known as ws2, waardenburg syndrome type ii

Description

Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS; see this term), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.

Most common symptoms of WAARDENBURG SYNDROME TYPE 2

  • Hearing impairment
  • Sensorineural hearing impairment
  • Ptosis
  • Telecanthus
  • Abnormality of the kidney


More info about WAARDENBURG SYNDROME TYPE 2

SOURCES: ORPHANET

DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69


Alternate names

DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69 Is also known as deafness, congenital, unilateral or asymmetric, dcua

Most common symptoms of DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69

  • Hearing impairment
  • Sensorineural hearing impairment
  • Congenital sensorineural hearing impairment
  • Vestibular dysfunction
  • Blue irides


More info about DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69

SOURCES: OMIM

FAMILIAL PROGRESSIVE HYPERPIGMENTATION


Alternate names

FAMILIAL PROGRESSIVE HYPERPIGMENTATION Is also known as melanosis universalis hereditaria, universal melanosis, melanosis diffusa congenita

Description

Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.


More info about FAMILIAL PROGRESSIVE HYPERPIGMENTATION

SOURCES: ORPHANET

FAMILIAL PROGRESSIVE HYPER- AND HYPOPIGMENTATION


Alternate names

FAMILIAL PROGRESSIVE HYPER- AND HYPOPIGMENTATION Is also known as fph, fphh

Description

Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.

Most common symptoms of FAMILIAL PROGRESSIVE HYPER- AND HYPOPIGMENTATION

  • Hyperhidrosis
  • Hypopigmentation of the skin
  • Hyperpigmentation of the skin
  • Progressive hyperpigmentation


More info about FAMILIAL PROGRESSIVE HYPER- AND HYPOPIGMENTATION

SOURCES: ORPHANET OMIM

HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH


Alternate names

HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH Is also known as melanosis universalis hereditaria, hyperpigmentation, familial progressive, 2, formerly, muh, fph2, formerly

Description

Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by Wang et al., 2009 and Amyere et al., 2011).Also see familial progressive hyperpigmentation (FPH1 ).

Most common symptoms of HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Hyperkeratosis
  • Hypopigmentation of the skin


More info about HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH

SOURCES: OMIM

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7


Alternate names

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7 Is also known as skin/hair/eye pigmentation 7, dark/light skin, skin/hair/eye pigmentation 7, blond/brown hair


More info about SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7

SOURCES: OMIM

NON-SEMINOMATOUS GERM CELL TUMOR OF TESTIS


Alternate names

NON-SEMINOMATOUS GERM CELL TUMOR OF TESTIS Is also known as testicular non seminomatous germ cell tumor, non-dysgerminomatous germ cell tumor of testis, testicular non-dysgerminomatous germ cell tumor

Description

Testicular non seminomatous germ cell tumor describes a group of testicular germ cell tumors (see this term) occurring in the third decade of life (mean age: 25 years) with a usually painless unilateral mass in the scrotum or in some cases with gynaecomastia and/or back and flack pain and characterized by a more aggressive clinical course than testicular seminomatous germ cell tumors (see this term) with rapid involvement of blood vessels and a poorer prognosis. Histologically, they can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components.


More info about NON-SEMINOMATOUS GERM CELL TUMOR OF TESTIS

SOURCES: ORPHANET

AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA


Alternate names

AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA Is also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, autosomal dominant isolated sensorineural deafness type dfna, autosomal dominant isolated sensorineural hearing loss type dfna, autosomal dominant isolated neurosensory deafness type dfna


More info about AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA

SOURCES: ORPHANET


Potential gene panels for KITLG gene

OtoSCOPE Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1

More info about this panel

OtoGenome Test for Hearing Loss (110 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A

More info about this panel

Deafness, Autosomal Dominant 69 (DFNA69), and Familial Progressive Hyperpigmentation with or without Hypopigmentation via KITLG Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KITLG gene.

More info about this panel

Hypopigmentation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypopigmentation Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6

More info about this panel

Genetic disorders with abnormal pigmentation Panel Panel

Germany.

By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST

More info about this panel

KIT D816 Mutation Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the KITLG gene.

More info about this panel

KITLG Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KITLG gene.

More info about this panel

Neurofibromatosis Panel Panel

Finland.

By Blueprint Genetics Neurofibromatosis Panel that also includes the following genes: SMARCB1 SPRED1 KIT KITLG NF1 NF2 PTPN11 RAF1

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 TMC1 HOMER2 CCDC50 SLC17A8 COCH

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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