Aplasia Of Lacrimal And Salivary Glands

Description

Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Aplasia Of Lacrimal And Salivary Glands Is also known as congenital absence of lacrimal puncta and salivary glands, alsg.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Aplasia Of Lacrimal And Salivary Glands Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LADD Syndrome, FGF10.

By Center for Human Genetics, Inc (United States).

FGF10
Specificity
100 %
Genes
100 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
LADD syndrome (sequence analysis of FGF10 gene).

By CGC Genetics (Portugal).

FGF10
Specificity
100 %
Genes
100 %
Aplasia of lacrimal and salivary glands (sequence analysis of FGF10 gene).

By CGC Genetics (Portugal).

FGF10
Specificity
100 %
Genes
100 %
Aplasia of lacrimal and salivary glands (sequence analysis of FGF10 gene).

By CGC Genetics (Portugal).

FGF10
Specificity
100 %
Genes
100 %
Hypospadias Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SALL1, BMP4, BMP7, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, WDR11, ZEB2, SETBP1, TP63, PCNT, ZFPM2, UBR1, FIG4, CDKN1C, ARX , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

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

We have 23 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1 RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA JOUBERT SYNDROME 2; JBTS2 CILIARY DYSKINESIA, PRIMARY, 5; CILD5

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more