Autoimmunity, and Short philtrum

Diseases related with Autoimmunity and Short philtrum

In the following list you will find some of the most common rare diseases related to Autoimmunity and Short philtrum that can help you solving undiagnosed cases.


Top matches:

Medium match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Medium match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Medium match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

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Other less relevant matches:

Low match ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

Related symptoms:

  • Hyperhidrosis
  • Hyperkeratosis
  • Sparse hair
  • Short philtrum
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12

Low match DIABETES INSIPIDUS, NEUROHYPOPHYSEAL


Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Low match MÜLLERIAN APLASIA AND HYPERANDROGENISM


Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

Low match SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50


Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).

SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Is also known as cerebral palsy, spastic quadriplegic, 3, formerly|cpsq3, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50

Low match COFFIN-SIRIS SYNDROME 5; CSS5


Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

Low match DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Top 5 symptoms//phenotypes associated to Autoimmunity and Short philtrum

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ptosis Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Short philtrum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Microcephaly Strabismus Abnormal facial shape Cleft palate Hearing impairment Thick eyebrow High palate Bulbous nose Renal agenesis Scoliosis Long philtrum Intrauterine growth retardation Wide nasal bridge Obesity Generalized hypotonia Acne Prominent nasal bridge Hypoplasia of the corpus callosum Low-set ears Short nose Hypertonia Atrial septal defect Telecanthus Hypothyroidism Short neck Micrognathia

Rare Symptoms - Less than 30% cases


Schizophrenia Inguinal hernia Purpura Nasal speech Hypocalcemia Cholelithiasis Abnormal heart morphology Unilateral renal agenesis Umbilical hernia Spina bifida Primary amenorrhea Narrow mouth Arthritis Tetralogy of Fallot Amenorrhea Specific learning disability Posterior embryotoxon Blepharophimosis Attention deficit hyperactivity disorder Failure to thrive Bipolar affective disorder Pneumonia Polyuria Synophrys Spasticity Hyperreflexia Intellectual disability, severe Absent speech Coarse facial features Dehydration Wide mouth Aspiration Aspiration pneumonia Anteverted nares Muscular hypotonia of the trunk Small for gestational age Polydipsia Gliosis Hypoparathyroidism Impaired T cell function Meningocele Truncus arteriosus Tetany Seborrheic dermatitis Hypoplasia of the thymus Aplasia of the uterus Talipes equinovarus Wide nose Abnormality of the dentition Constipation Long face Sparse hair Vomiting Diabetes mellitus Confusion Patent ductus arteriosus Arachnodactyly Thrombocytopenia Delayed speech and language development Malar flattening Abnormality of dental enamel Downslanted palpebral fissures Retrognathia Protruding ear Depressed nasal bridge Cataract High, narrow palate Hypodontia Neoplasm Renal hypoplasia Flexion contracture Laryngomalacia Fever Abnormality of cardiovascular system morphology Immunodeficiency Microphthalmia Behavioral abnormality Recurrent infections Ventricular septal defect Hydrocephalus Hirsutism Cubitus valgus Hypoplasia of the uterus High anterior hairline Aplasia/Hypoplasia of the fallopian tube Shield chest Abnormal vagina morphology Hip dislocation Frontal balding Increased serum testosterone level Facial hirsutism Aplasia of the vagina Abnormality of the ovary Concave nasal ridge Finger syndactyly Ataxia Brachydactyly Deeply set eye Ventriculomegaly Cerebellar atrophy Proptosis Babinski sign Prominent forehead Mandibular prognathia Anodontia Syndactyly Neonatal hypotonia Spastic paraplegia Abnormality of the cerebral white matter Congenital cataract Hypertonic dehydration Germinoma Osteoporosis Dry skin Lethargy Irritability Osteopenia Weight loss Anhidrotic ectodermal dysplasia Abnormality of metabolism/homeostasis Vertigo Abnormal form of the vertebral bodies Fatigue Growth delay Hypoplastic sweat glands Acne inversa Hypohidrotic ectodermal dysplasia Abnormality of the ribs Convex nasal ridge Abnormality of the anterior pituitary Paraplegia Orthokeratosis Nocturia Pollakisuria Central diabetes insipidus Histiocytosis Enuresis Diabetes insipidus Coma Toe syndactyly Micromelia Subungual hyperkeratosis Hypotension Growth hormone deficiency Syncope Absent nipple Orthostatic hypotension Cerebral palsy Inability to walk Mild global developmental delay Thickened ears Transient neonatal diabetes mellitus Beta-cell dysfunction Pancreatic hypoplasia Limb joint contracture Autoimmune antibody positivity Ketoacidosis Clinodactyly of the 4th finger Prominent metopic ridge Abnormality of the immune system Abnormality of the ear Hyperglycemia Radial deviation of finger Bilateral ptosis Failure to thrive in infancy Elevated hemoglobin A1c Dysarthria Progressive neurologic deterioration Hypotelorism Thick upper lip vermilion Brisk reflexes Short chin Narrow face Progressive microcephaly Broad-based gait Eczema Myopathy Esotropia Underdeveloped nasal alae Prominent nose Smooth philtrum Postnatal growth retardation Pes cavus Elevated serum creatine phosphokinase Type I diabetes mellitus Hypsarrhythmia Tetraplegia Progressive spasticity Cerebellar hypoplasia Feeding difficulties Wide nasal ridge Pseudobulbar signs Everted upper lip vermilion Facial hypotonia Adducted thumb Short distal phalanx of finger Infantile muscular hypotonia Drooling Agenesis of permanent teeth Intellectual disability, progressive Frontal bossing Spastic tetraplegia Narrow forehead Thin upper lip vermilion Dandy-Walker malformation Downturned corners of mouth Abnormal corpus callosum morphology Nystagmus Abnormality of the nervous system Clinodactyly Peripheral neuropathy Motor delay Muscle weakness Thick nasal alae Dystrophic toenail Small nail Slender finger Hypoplastic toenails Sandal gap Low anterior hairline Long eyelashes Sparse scalp hair Thick lower lip vermilion Natal tooth Hyperkeratosis Anhidrosis Elbow dislocation Graves disease Deep philtrum Systemic lupus erythematosus Anterior segment developmental abnormality Radioulnar synostosis Juvenile rheumatoid arthritis Myelomeningocele Perimembranous ventricular septal defect Ectropion Sclerocornea Hypoplasia of the ulna Mixed hearing impairment Vitiligo Absent thumb Abnormality of digit Interrupted aortic arch Femoral hernia Autoimmune hemolytic anemia Conotruncal defect Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Esophoria Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Vascular tortuosity Alcoholism Abnormality of the thymus Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Hypoplasia of the radius Right aortic arch Autoimmune thrombocytopenia Inflammation of the large intestine Parathyroid agenesis Astigmatism Anemia Chorea Bifid uvula Hemolytic anemia Iris coloboma Polymicrogyria Generalized tonic-clonic seizures Coarctation of aorta Microtia Craniosynostosis Abnormality of the pinna Abnormality of the kidney Cleft lip Hydronephrosis Posteriorly rotated ears Cognitive impairment Low posterior hairline Congenital hypothyroidism Bicuspid aortic valve Oligodactyly Psoriasiform dermatitis Rheumatoid arthritis Synostosis of carpal bones Absent toenail Arnold-Chiari malformation Absent fingernail Foot oligodactyly Short palpebral fissure Bilateral renal hypoplasia Crossed fused renal ectopia Exotropia Amblyopia Broad thumb Renal dysplasia Synostosis of joints Parathyroid hypoplasia Type I truncus arteriosus Hypohidrosis Abnormal eyelid morphology Abnormal thrombocyte morphology Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormality of the skull Abnormality of the pharynx Multiple renal cysts Patellar dislocation Turricephaly Abnormal lung lobation Foot polydactyly Hyperthyroidism Bowel incontinence Abnormal aortic valve morphology Small earlobe Chronic otitis media Abnormality of the tonsils Ectodermal dysplasia Thick vermilion border Hypotrichosis Nail dystrophy Abnormality of the genital system Hyperhidrosis Occipital myelomeningocele Tricuspid atresia Platybasia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Arrhinencephaly Dysphasia Overfolded helix Muscular hypotonia Narrow palate Autism Glaucoma Upslanted palpebral fissure Hemivertebrae Hypospadias Depressivity Splenomegaly Gastroesophageal reflux Intellectual disability, mild Abnormal dermatoglyphics Optic atrophy Renal hypoplasia/aplasia Abnormality of the metacarpal bones Epicanthus Cryptorchidism Polyhydramnios Conductive hearing impairment Abnormality of the thorax Vesicoureteral reflux Hand polydactyly Polycystic kidney dysplasia Hypopigmented skin patches Aganglionic megacolon Choanal atresia Gastrointestinal hemorrhage Intestinal malrotation Asthma Myalgia Short thumb Congenital hip dislocation Anal atresia Joint hyperflexibility Carious teeth Feeding difficulties in infancy Anxiety Achilles tendon contracture



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